Mutagenetix > Incidental Mutation

Incidental Mutation 'R7042:Ppp3cc'

547128

Institutional Source

Beutler Lab

Gene Symbol

Ppp3cc

Ensembl Gene

ENSMUSG00000022092

Gene Name

protein phosphatase 3, catalytic subunit, gamma isoform

Synonyms

Calnc, PP2BA gamma

MMRRC Submission

045141-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70455314-70526920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70462468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 399 (K399Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078434] [ENSMUST00000228911]

AlphaFold

P48455

Predicted Effect

probably benign
Transcript: ENSMUST00000078434
AA Change: K390Q

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: K390Q

Domain	Start	End	E-Value	Type
PP2Ac	52	343	4e-151	SMART
low complexity region	413	433	N/A	INTRINSIC
low complexity region	492	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228911
AA Change: K399Q

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to reduced hyperactivated sperm motility and midpiece rigidity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,192,098 (GRCm39)	S554G	possibly damaging	Het
Adcy7	G	T	8: 89,042,378 (GRCm39)	R415L	probably damaging	Het
Aox1	A	T	1: 58,141,759 (GRCm39)	I1182F	probably damaging	Het
Ccdc7b	T	A	8: 129,811,730 (GRCm39)	Y147N	probably benign	Het
Clcnka	A	G	4: 141,118,691 (GRCm39)	I398T	probably damaging	Het
Cst8	T	A	2: 148,641,796 (GRCm39)		probably null	Het
Dcxr	T	C	11: 120,617,841 (GRCm39)	D45G	possibly damaging	Het
Dhx38	A	T	8: 110,283,617 (GRCm39)	M510K	possibly damaging	Het
Dync2i1	T	C	12: 116,218,061 (GRCm39)	I182M	probably benign	Het
Ebf1	T	A	11: 44,882,338 (GRCm39)	H431Q	probably damaging	Het
Eml4	T	C	17: 83,768,999 (GRCm39)	I681T	probably damaging	Het
Etf1	T	C	18: 35,043,219 (GRCm39)	N164S	probably benign	Het
Fmo2	A	G	1: 162,708,226 (GRCm39)	V303A	probably damaging	Het
Foxl2	T	A	9: 98,837,715 (GRCm39)	M1K	probably null	Het
Gm3404	A	T	5: 146,462,969 (GRCm39)	E50D	probably benign	Het
Gpr61	G	A	3: 108,058,647 (GRCm39)	P5S	possibly damaging	Het
Hcrtr1	A	G	4: 130,024,653 (GRCm39)		probably benign	Het
Ier3ip1	T	A	18: 77,017,828 (GRCm39)	F3I	possibly damaging	Het
Ifi206	G	A	1: 173,308,808 (GRCm39)	P396L		Het
Ifi209	G	A	1: 173,470,236 (GRCm39)	V275I	probably benign	Het
Ighv1-69	T	C	12: 115,586,909 (GRCm39)	S75G	probably benign	Het
Kcnj3	A	T	2: 55,484,877 (GRCm39)	H325L	possibly damaging	Het
Klrk1	A	T	6: 129,593,734 (GRCm39)	S50T	possibly damaging	Het
Mfsd4b4	T	A	10: 39,768,514 (GRCm39)	Y193F	probably damaging	Het
Nlrp5	A	G	7: 23,116,905 (GRCm39)	I210V	possibly damaging	Het
Or4p20	T	A	2: 88,253,746 (GRCm39)	I208F	possibly damaging	Het
Or5w12	A	T	2: 87,501,935 (GRCm39)	Y259N	possibly damaging	Het
Or8b3	G	T	9: 38,314,196 (GRCm39)	G6C	probably damaging	Het
Or8d23	A	G	9: 38,841,622 (GRCm39)	S52G	possibly damaging	Het
Pax6	A	T	2: 105,526,718 (GRCm39)	H208L	probably benign	Het
Pgc	C	A	17: 48,044,745 (GRCm39)	Q331K	probably benign	Het
Phldb1	A	G	9: 44,605,721 (GRCm39)	S370P	probably damaging	Het
Pi4k2a	T	C	19: 42,093,337 (GRCm39)	I226T	probably benign	Het
Pick1	T	C	15: 79,132,965 (GRCm39)	S342P	probably damaging	Het
Plscr1	A	G	9: 92,153,588 (GRCm39)	M312V	probably damaging	Het
Qpctl	T	C	7: 18,880,943 (GRCm39)	H163R	probably benign	Het
Rab11fip5	A	G	6: 85,351,110 (GRCm39)	V134A	possibly damaging	Het
Rasal1	T	A	5: 120,802,025 (GRCm39)		probably null	Het
Rem2	T	A	14: 54,715,548 (GRCm39)	I171N	probably damaging	Het
Sec22a	T	A	16: 35,149,885 (GRCm39)	I214L	probably benign	Het
Setbp1	T	C	18: 79,130,070 (GRCm39)	D54G	probably damaging	Het
Slc27a2	C	T	2: 126,409,700 (GRCm39)	A294V	probably damaging	Het
Slfn14	T	A	11: 83,167,430 (GRCm39)	D695V	probably damaging	Het
Smc6	T	A	12: 11,359,301 (GRCm39)	I975K	probably damaging	Het
Spice1	T	C	16: 44,206,043 (GRCm39)	F835L	probably benign	Het
Tars2	A	T	3: 95,658,057 (GRCm39)	H222Q	probably benign	Het
Tmtc2	A	T	10: 105,206,477 (GRCm39)	F273I	probably damaging	Het
Ttc39d	C	A	17: 80,523,891 (GRCm39)	D183E	probably benign	Het
Vasp	A	G	7: 18,995,946 (GRCm39)	S128P	probably benign	Het
Vcpip1	A	G	1: 9,818,378 (GRCm39)	S2P	unknown	Het
Vmn2r98	T	C	17: 19,301,184 (GRCm39)	Y729H	probably benign	Het
Wdr18	A	T	10: 79,801,944 (GRCm39)	D243V	probably benign	Het
Xirp2	T	C	2: 67,343,633 (GRCm39)	V1958A	probably benign	Het
Zfp451	A	T	1: 33,816,474 (GRCm39)	M492K	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	Het

Other mutations in Ppp3cc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Ppp3cc	APN	14	70,455,701 (GRCm39)	missense	probably damaging	0.99
IGL02182:Ppp3cc	APN	14	70,462,473 (GRCm39)	missense	probably benign	0.21
IGL02272:Ppp3cc	APN	14	70,473,938 (GRCm39)	missense	probably damaging	1.00
IGL03207:Ppp3cc	APN	14	70,485,031 (GRCm39)	missense	probably damaging	1.00
IGL03394:Ppp3cc	APN	14	70,462,477 (GRCm39)	nonsense	probably null
tomap	UTSW	14	70,478,397 (GRCm39)	missense	probably damaging	1.00
R0111:Ppp3cc	UTSW	14	70,493,808 (GRCm39)	critical splice donor site	probably null
R0625:Ppp3cc	UTSW	14	70,462,476 (GRCm39)	missense	probably damaging	0.99
R1368:Ppp3cc	UTSW	14	70,483,311 (GRCm39)	missense	probably damaging	1.00
R1484:Ppp3cc	UTSW	14	70,478,397 (GRCm39)	missense	probably damaging	1.00
R4757:Ppp3cc	UTSW	14	70,455,635 (GRCm39)	missense	possibly damaging	0.94
R6198:Ppp3cc	UTSW	14	70,485,060 (GRCm39)	missense	probably benign	0.20
R7209:Ppp3cc	UTSW	14	70,504,947 (GRCm39)	missense	probably benign	0.00
R7305:Ppp3cc	UTSW	14	70,478,252 (GRCm39)	missense	probably benign
R7406:Ppp3cc	UTSW	14	70,483,387 (GRCm39)	missense	possibly damaging	0.80
R7509:Ppp3cc	UTSW	14	70,504,131 (GRCm39)	missense	probably damaging	1.00
R7623:Ppp3cc	UTSW	14	70,478,394 (GRCm39)	missense	probably benign	0.37
R7814:Ppp3cc	UTSW	14	70,462,464 (GRCm39)	missense	possibly damaging	0.68
R8700:Ppp3cc	UTSW	14	70,474,001 (GRCm39)	missense	probably damaging	1.00
R9381:Ppp3cc	UTSW	14	70,462,441 (GRCm39)	missense	probably benign	0.40
RF002:Ppp3cc	UTSW	14	70,504,788 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CAGGGAGTCTGTTTAACCTGC -3'
(R):5'- TGCAACTTCCCAGGATTGTTAATTG -3'

Sequencing Primer
(F):5'- GGAGTCTGTTTAACCTGCACTCAAC -3'
(R):5'- AAGCACTCCATCTTGCA -3'

Posted On

2019-05-13